Alarming Stats and Facts about Congenital Diseases:
More than 303,000 newborns die every year within 4 weeks after their birth because to congenital anomalies.
Congenital anomalies can often lead to long-term disability, that can have significant impacts on the life of the individual, family, health-care systems, as well as society.
Unfortunately, The most severe congenital deformities are also quite common, which include down syndrome, heart defects, and neural tube defects.
Although congenital anomalies can be a result of genetic, nutritional, environmental, or infectious factors, the exact cause of the condition can’t be identified.
There are some congenital anomalies that can be prevented. Vaccination, adequate intake of iodine or folic acid through food or supplements, and antenatal care are some of the prevention methods to avoid congenital deformities.
What are congenital anomalies?
The general meaning of congenital is the “existence before or at birth”. Congenital anomalies, aka congenital disorders, birth defects, or congenital malformations exist from birth. They are basically structural/ functional anomalies (e.g., metabolic disorders) which occur during intrauterine life and are identified prenatally, at birth. In some cases, the conditions are detected much later, like hearing defects.
Causes & Risk Factors
Although 50% of all congenital disorders cannot be linked with a specific cause, there are few known genetic, nutritional, environmental and other risk factors.
Genes play a significant role in causing several congenital anomalies. This may be because the baby can inherit genes that are coded for an anomaly, or genes might mutate during fetus growth or after birth.
Consanguinity (when the parents are blood relatives) can also increase the prevalence of some rare genetic birth disorders and can nearly double the risk of childhood and neonatal death, intellectual disability & other anomalies.
Some ethnic communities (including Finns or Ashkenazi Jews) have a higher prevalence of experiencing genetic mutations like Hemophilia C and Cystic Fibrosis.
Socioeconomic & Demographic Factors
Low-income is an indirect determinant that can lead to congenital anomalies, among resource-constrained countries and families. 94% of severe birth disorders occur in low or middle-income countries. This higher risk is associated with possible lack or inaccessibility of proper medical care, sufficient nutritious food intake by pregnant women, and increased exposure to factors like alcohol and infection. Factors related to lower-income can also increase the risk of abnormal prenatal development.
Maternal age can also result in the development of abnormal intrauterine fetal. Advanced maternal age may increase the risk of Down syndrome or other chromosomal abnormalities.
Maternal exposure to certain chemicals and pesticides, medications, tobacco, radiation, and alcohol during pregnancy, may higher the risk of affecting the neonate or a fetus with congenital anomalies.
Working or living in or near, smelters, waste sites, or mines can also be a risk factor, especially if the mother gets exposed to other nutritional deficiencies or environmental risk factors.
Maternal infections like rubella and syphilis are the leading cause of congenital disabilities in low as well as middle-income countries.
Recently,during a research, it was found that in-utero exposure to Zika virus can affect fetus development. In 2015 Zika virus cases were detected in Brazil, including spatiotemporally that were associated with an increase in microcephaly.
Maternal nutritional status
Maternal folate insufficiency is another risk factor that causes the baby to develop neural tube defect because of excessive intake of vitamin A that affects the normal development of the fetus or embryo.
Patients cannot really control the genetic factors associated with congenital deformities, but they can take measures to consume sufficient nutrition and stay in a safe environment that can complement the healthy growth of a fetus.
However, these factors are also indirectly related to the financial standings of a family and the nation. So, it’s important for the government to ensure that every individual in the country receives an adequate amount of nutrition to survive and also have access to proper medical facilities. Organizations like WHO have raised concerns about the increase in headcount of babies with congenital defects. This motivated developing nations to reinforce new ways to help lower and middle-class families receive proper care and prevent the disease.
Health care before and during conception (preconception & peri-conception) involves general reproductive health practices, counselling and medical genetic screenings. These screening are conducted in 3 periods:
Preconception screening helps in identifying those at risk of specific disorders or at risk of passing on a disease onto their children. Screening includes obtaining and studying family histories. Carrier screening is particularly useful in countries with legal consanguineous marriage.
Peri-Conception Screening: Maternal characteristics often increase risk, and screening results can be used for offering appropriate care. This can include the screening of mothers with young age or advanced maternal age. Screening also helps in determining the risks associated with tobacco and alcohol use.
Ultrasound can help detect Down syndrome, and other major structural abnormalities during the mother’s first or second trimester. Screening of Placental markers can be used to predict the chances of neural tube defects and chromosomal abnormalities.
Diagnostic tests, including chorionic villus sampling and amniocentesis, can be used for diagnosing infections and chromosomal abnormalities in women before they give birth.
Neonatal screening includes hormone, metabolism & blood disorders, clinical examination and screening. Screening for heart defects and deafness and detection of congenital anomalies early-on can help in accessing treatment on time, preventing progression of some intellectual, auditory, visual, or physical disabilities. In some countries, babies are often routinely screened for abnormalities of the adrenal glands or thyroid before they get discharged from the maternity unit to prevent delay in treatment in case of a developing condition.
Congenital Deformities Treatment in India
The best way for treating any medical problem is by receiving treatment for it immediately. Many structural and functional congenital anomalies can be treated/ corrected with modern day equipment and pediatric surgery. Early treatment can used to manage children with functional problems like sickle cell disorders, congenital hypothyroidism (reduced thyroid function) and thalassemia (a type of recessive blood disorder inherited from parents).
We understand how the lack of money and technological resources might prevent people from delaying their kid’s treatment. In such cases, patients can travel aboard for their treatment to countries that offer affordable treatment facilities like India.
Indian hospitals offer treatment facilities for all types of pediatric specialities from heart, liver to joint, bone and blood disorders. International patients can undergo quality treatment at a feasible price using Medmonks services.
In the past few years, more than 20,000 Septal Atrial Defects cases of international patients have been successfully treated in India.
All the multi-speciality hospitals in India have special pediatric care units, which are designed keeping in mind the comfort of small kids so that they feel safe at the facility.